Canonical Allele Identifier: CA344645573

Gene: RAB3GAP2

Linked Data

• MyVariant Identifiers: chr1:g.220364536T>A (hg19) ; chr1:g.220191194T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191194T>A , CM000663.2:g.220191194T>A	GRCh38
NC_000001.10:g.220364536T>A , CM000663.1:g.220364536T>A	GRCh37
NC_000001.9:g.218431159T>A	NCBI36
NG_015837.1:g.86308A>T
NG_015837.2:g.86308A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1361A>T	ENSP00000509457.1:p.Asn454Ile
ENST00000685664.1:c.1361A>T	ENSP00000509121.1:p.Asn454Ile
ENST00000686381.1:c.1097A>T	ENSP00000509555.1:p.Asn366Ile
ENST00000687065.1:c.1097A>T	ENSP00000510408.1:p.Asn366Ile
ENST00000687394.1:n.1467A>T
ENST00000687647.1:c.1097A>T	ENSP00000509205.1:p.Asn366Ile
ENST00000688035.1:n.1776A>T
ENST00000690315.1:c.1262A>T	ENSP00000509834.1:p.Asn421Ile
ENST00000690373.1:n.1700A>T
ENST00000690379.1:n.1391A>T
ENST00000690824.1:c.1361A>T	ENSP00000510709.1:p.Asn454Ile
ENST00000691661.1:c.1373A>T	ENSP00000510185.1:p.Asn458Ile
ENST00000691862.1:c.1259A>T	ENSP00000509291.1:p.Asn420Ile
ENST00000692813.1:c.1361A>T	ENSP00000509080.1:p.Asn454Ile
ENST00000692972.1:c.1436A>T	ENSP00000510753.1:p.Asn479Ile
ENST00000693454.1:n.571A>T
ENST00000693602.1:n.1454A>T
ENST00000358951.7:c.1361A>T MANE Select	ENSP00000351832.2:p.Asn454Ile
ENST00000358951.6:c.1361A>T	ENSP00000351832.2:p.Asn454Ile
ENST00000478976.1:n.292-769A>T
NM_012414.3:c.1361A>T	NP_036546.2:p.Asn454Ile
NM_012414.4:c.1361A>T MANE Select	NP_036546.2:p.Asn454Ile